Article
Paternal origin of new mutations in von Recklinghausen neurofibromatosis.
Nature - 8 Feb 1990
Jadayel D, Fain P, Upadhyaya M, Ponder M A, Huson S M, Carey J, Fryer A, Mathew C G, Barker D F, Ponder B A
Abstract excerpt
Von Recklinghausen neurofibromatosis (NF-1) is a common autosomal dominant disorder. The estimated new mutation rate (1 x 10(-4] is one of the highest for a human disorder. Here we report that in 12 of 14 families we have analysed, the new mutation is of paternal origin. This result is similar to...
Topics
- Adult
- DNA
- Humans
- Male
- Mitosis
- Mutation
- Neurofibromatosis 1
- Pedigree
- Spermatozoa